This is a case of a 33-year-old G5 P4 with non-contributive family or personal history who was referred to our department at 22 weeks of gestation. The father of the baby was a first degree consanquineous. The previous pregnancies were uncomplicated and all the children were healthy.

The ultrasound examination showed shortening of the long bones, below the 5th percentile. The bones were also bowed, especially both femurs and tibias. There was an increased amount of the amniotic fluid. The cervical spine showed an abnormal curvature, hyperlordosis. Both feet and hands seemed abnormally positioned. Our diagnosis based on the ultrasound examination was campomelic dysplasia.

Patient delivered via cesarean section at 42 weeks of gestation. The neonate died a few hours after delivery due to a severe respiratory distress. Our diagnosis of campomelic dysplasia was confirmed after delivery. The cause of death was probably a respiratory failure due to abnormalities of the bronchial and tracheal cartilage, so called tracheobronchomalacia.